Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told BioNews Services, publisher…
A 15-month-old boy has become the youngest reported patient with Gaucher disease to develop multiple benign accumulations of Gaucher cells — called a Gaucheroma — after starting on enzyme replacement therapy (ERT), a case study reports. The research, “Very rare condition of multiple Gaucheroma: A…
Adding ambroxol to enzyme replacement therapy (ERT) lowers the levels of glucosylsphingosine (lyso-Gb1) — a known diagnostic and response biomarker of Gaucher disease — and can alleviate, to some extent, neurologic symptoms in people with Gaucher type 3, a case study of two patients suggests. The degree…
Prevail Therapeutics is asking the U.S. Food and Drug Administration (FDA) to approved a request to open clinical trials, at higher doses than initially planned, into its investigational gene therapy PR001 in people with pediatric neuronopathic Gaucher’s disease (type 2). In its updated Investigational New Drug (IND)…
A new algorithm that examines neurological and oculomotor signs may make it much easier to diagnose certain “often overlooked” rare neurological conditions, including Gaucher disease type 3 (GD3), the research team that developed it said. The algorithm is described in the study “An algorithm as a diagnostic tool…
Stem cell therapy given via intravenous injection eased symptoms and prolonged survival in a mouse model of Gaucher disease with neuronal symptoms, a proof-of-concept study reports. The study, “Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic…
Levels of the biomarkers cathepsin D, cathepsin S, YKL-40, and progranulin are not accurate enough to measure disease activity in Gaucher disease patients, but might inform the severity of disease-related manifestations such as skeletal disease and splenomegaly, a new study shows. The study, “Aberrant…
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
The case of a Gaucher disease patient who received a lung transplant to treat pulmonary hypertension calls into question assumptions about how Gaucher affects blood pressure in the lungs, researchers say. Titled “Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in…
